This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, ａnd it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, ａnd signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, ａnd through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, ａnd recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers ａnd more than 80% of inherited breast ａnd ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization ａnd physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq].1) Matsuoka, S., et al. Science 316(5828):1160-1166(2007)
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This BRCA1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 443-472 amino acids from the N-terminal region of human BRCA1.

WB

Human